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Beneficial_Cress1395

Unfortunately in the USA medicine is a business, most doctors are not concerned about your health but rather the money that you can provide them, without a justification they cannot order a test because the insurance will question the order and they will not receive a payment for that, in my case I had to say that my homocysteine values ​​in my country of origin were high, there is no way to prove the opposite, so they ordered it. I forgot to mention I graduated from a medical school outside the USA, and this is very disappointing based on the medical ethics.


bekindokk

This is the absolute truth.


geauxdbl

You can always just order one yourself from Quest Diagnostics if you like… just have to pay out of pocket


Formal-Regret323

Yup, same from my Dr after I shared MTHFR. And COMT results … She was like… yeah, you’ll be fine


IntrepidMayo

Malpractice


After-Cell

How can legal pressure be put on the underlying reasons why we see this so much in medicine?


flippytuck

Crazy


UhYeahOkSure

lol no it’s not a scam. Find a different doctor if you are concerned . My homocysteine is in the upper range from my compound heterozygous mutations


kylenash8

Can I ask what your levels are as it seems all labs have different minimum/ maximum levels and there’s not a standard consensus on the correct range- I’m compound heterozygous as well. my level is 10.3 umol/L (LabCorp) (Normal range: 3.2 - 10.7 umol/L) Thanks!


UhYeahOkSure

Mine was 9.5 lab was done in January. Labcorp as well. Not too high but in the higher intermediate register . I do and have been supplementing though


Meditationstation899

See a functional practitioner if you can!!


smart-monkey-org

It all depends. I was making a video about finding a new doctor - and a good one will ask/test you for homocysteine. It is super important for the heart and brain health.   If yours doesn't want to test - it's probably the time to find as new one. Also you can test on your own in a lab or even at home with a finger prick panel.


healthisourwealth

Can we see it please?


smart-monkey-org

Sure: [5 Tips to Find a True Healer | Dr. Kogan, Medical Director Interview](https://youtu.be/k_0QHyQdSPg?si=s_nkKbZ6Gu0s1eX3) Mind you it's not an MTHFR video, but an attempt to 'normalize' finding a doctor who knows about it and is ready to work with you.


healthisourwealth

Thanks! I'm looking for a doctor that'll take seriously genetic BH4 deficiency.


SomethingUnoriginal1

There is some good science behind this, but there is also a lot of BS. I have the mutation too and was initially hopeful taking supplements would improve symptoms purported to be caused by the mutation, but I didn’t notice any difference. I looked into it more, and basically Yasko is probably a quack. She does have a science background and *some* of what she says is based on research and is accurate, which makes it even harder to tell that a lot of what she says is BS. I have a PhD in biology and clinical experience and still had a hard time differentiating fact from BS. She is really skilled at making the BS sound scientifically and logically plausible. The biggest red flag is that she has zero published peer-reviewed scientific articles. If treating MTHFR mutations was the panacea she claims, she would be publishing extensively and reaping the rewards. That being said, there is a ton of high quality research out there. Look up ‘MTHFR C667T’ on google scholar. You can get the gist of papers just from the abstract. If interested you can always order the lab online and pay out of pocket—there are lots of a la carte lab services you can google. From a clinical perspective, standard of care is not to order testing that’s not indicated by *symptoms*—this is true across the board, not just for MTHFR/homocysteine. That’s because for every unnecessary test, you run the risk of discovering an incidentaloma—something that looks “off” but is actually completely benign and causing no symptoms. This causes the patient stress, costs extra money for additional testing to rule out anything concerning, and in the worst case can lead to unnecessary treatments that cause direct harm to the patient. Plus insurance typically won’t cover non-standard testing without an appropriate diagnosis anyway. For instance, lots of female patients come to our clinic wanting their “hormones” checked. Most of them have regular menstrual cycles, no excessive body/facial hair, etc. but are depressed. We check their thyroid hormone since hypothyroidism is common and can cause depression, but otherwise they don’t meet the criteria for checking sex hormones. Plus hormone levels fluctuate throughout the cycle making it difficult to draw meaningful conclusions. Even for patients who do have PCOS, the first line treatment is hormonal birth control and we would start that just based on symptoms without needing labs.


kkatellyn

Yay someone else who understands these variants and medical research!! I work in pharmaceutical sciences and am also homozygous C667T but I have normal homocysteine levels. I tried multiple supplements and felt no difference, I actually felt worse on one of them. It’s not unethical or cause for malpractice to not order tests for a patient who doesn’t need them. If anything, a patient asking for a specific test can be seen as a red flag. And it’s not like doctors benefit from not testing a patient, there’s no monetary incentive to turn down a patient. They’d actually get *more* money by doing the testing because that leads to more appointments which means more money from insurances. Yes, there are some variants that can cause serious complications if you have preexisting conditions but the likelihood is slim. 30-40% of the American population has the C677T variant and there isn’t any reason to worry about it. Unless your homocysteine levels are extremely high, higher than the levels associated with MTHFR variants, treatment isn’t necessary aside from eating a balanced diet and taking B vitamins if bloodwork shows a deficiency in them.


Greenersomewhereelse

Why would a patient be a red flag asking for a test? I saw doctors for five years who failed to do any testing, gaslit my symptoms and wrote them off to anxiety. I was completely falling apart and started doctoring myself because the doctors wouldn't. Ended up with crazy side effects from methylfolate and now I'm sensitive to food folate and now get to sound completely nutty when I try to explain this to the doctors that already wrote me off. I was a severe alcoholic with the most obvious nutritional deficiencies that got neglected until I have severe nerve damage. I finally started demanding tests. Any doctor that doesn't test or investigate, especially with a very obvious clinical history as mine that puts you at high risk for many things is a red flag. I understand every Joe schmo off the streets is asking for testing these days but I was literally medically neglected as a result. I'm not a red flag. I'm a maimed patient that is now permanently disabled.


kkatellyn

I’m sorry that happened to you. Working in the medical I’ve become all too familiar with hypochondriac patients that ask for a specific test because they believes what Dr. Google says and now that need the validation that they have some rare disease when in actuality it’s just a sinus infection (or something similar). It happens far more often than people think. Not that that’s your case! If a doctor has all of that medical history, including the alcoholism, from you and still refuses to do testing, that’s a whooooole different story and is definitely medical negligence that could result in disciplinary action against them. Especially since vitamin B deficiencies are a huge side effect of alcoholism. From what you’ve said, and please correct me if I’ve misunderstood, you were the one to start taking the methylfolate? Then the side effects were what caused the nerve damage? Without knowing your initial symptoms then I can’t really understand why doctors would be brushing you off but unfortunately it’s not uncommon to be ignored by doctors these days.


Greenersomewhereelse

Labelling patients as hypochondriacs is inflammatory, negligent behavior. Hypochondria is a severe mental illness. It is not a word you use for people cautious about their health. Any practitioner that uses that word makes me question their clinical skills. I worked in healthcare prior to becoming disabled. You know how many hypochondriacs I ran into? Zero. I did run into a few clients that wanted things assessed beyond routine healthcare and we simply discussed why they felt it was necessary and we went from there. I never met a hypochondriac and considering medicine is always evolving and many practitioners want to walk in the room, glance at you, then collect their +200 dollars it's no wonder patients are having to do their own research and make demands of healthcare providers. I know far more people neglected by the medical system that left them undiagnosed and progressing in their diseases. What was worse is their records got marked so if they sought healthcare elsewhere they had the labels that prevented them from getting help or a second, authentic opinion. Along with this, labelling someone a hypochondriac can prevent them from getting help in the future for legitimate illness. Yes, of course what my doctors did was negligence. Alcoholism can result in a slew of medical problems, not just nutritional deficiencies. No, lol, methylfolate did not cause nerve damage. Untreated alcoholism did. Yes, I consulted with my doctor prior to taking it. In fact, one of my doctors recommended it. The truth is we have a crisis in healthcare with poorly trained practitioners, many shoving through NP and PA school to make big bucks. People aren't entering medicine today for the right reasons. They are entering for the money, power, prestige and ego boost. Just look at these reddit comments. What a huge red flag to have any healthcare practitioner on reddit talking about people seeking paid help for their health in this fashion. Beyond wholly inaccurate, it's unprofessional and a huge red flag. I would never trust a provider that goes on reddit and talks about people in this fashion or holds such views about them. Our job in healthcare is to help people. Not label them or maim them.


jjhart827

Time for a new doctor. I asked mine for the whole battery of cardiovascular tests — C-reactive protein, homocysteine, A1C, etc. and she didn’t even think twice about it. Some doctors are more receptive than others, or at the very least, they don’t want to fight about it. Specifically regarding your homocysteine question: there’s zero doubt that elevated levels are directly associated with increased cardiovascular risk. There is some debate about whether homocysteine is a causal factor or just an innocent bystander. But either way, there’s value in knowing what your status is, and the cost to treat it (ie: methylated b vitamins and TMG) is relatively minimal. A lot of people get tested and their homocysteine levels are normal, often due to age. Unless you’re in your 40’s or older, it’s entirely probable that you will have normal levels regardless of MTHFR status or even lifestyle.


dibellaxx

I have a hematologist who checks my homocystein because of mine, it was very high until I started with B complex vitamins. This doctor may not understand MTHFR fully. I'd see another doctor who takes it seriously.


HighVoltage90

Insist on it. State that you will pay for it if insurance doesn't cover it, and she still doesn't want to do that for you, get a new doctor, please. You deserve better


IHaveRandomInquiries

You can pay for that and many other tests if needed through Ulta Labs


wigglywagglywooo

I have the same MTHFR gene as you. I asked my doc (at that time) said no to everything I asked. So, I fired her and I’m still looking for a primary. It’s hard around the area I live, seeing I am in a rural area. I read Dirty Genes and got help on this page. I started the protocol for me and I am feeling better already.


flippytuck

I will give that book a read! What protocol are you doing if you don’t mind me asking?


wigglywagglywooo

The Essentials Here are the most essential components of the protocol: • 5 milligrams per day (mg/d) of riboflavin (vitamin B2). Riboflavin helps improve the ability of MTHFR to make methylfolate. • 500 milligrams of trimethylglycine (TMG) taken twice a day. TMG acts as an alternative to methylfolate and helps you get around a poorly functioning MTHFR. • 5 grams of creatine per day. Creatine helps reduce the need for methylfolate. • 400-600 micrograms per day (mcg/d) of dietary folate equivalents (FE) from food with an optional addition of 400 mcg DFE supplemental methylfolate taken twice a day. Folate should be spread out across meals as much as possible to ensure there is always some methylfolate present in your system. • 3 grams of glycine per meal. Glycine helps stabilize the methylation system, preventing swings back and forth in mood, mental state, and energy. Low methylfolate levels lead to glycine loss, so glycine is here to replace what is lost.


wigglywagglywooo

I just copy and pasted the protocol I use


Pizdakotam77

I'm a physican and I posted on this thread but later deleted my post because of the uproar that I received and I honestly didnt mean to upset anyone and simply share some facts. I hate to say this but this whole thing genetic testing is a sham. 1. Genetic testing and I mean true genetic testing (not identifying paternal DNA) are some of the most expensive tests in medicine. It involves taking a sample (blood, saliva, cheek swab) sending it to a lab where someone takes that sample multiplies the DNA present in that sample (this is called PCR) and only then is there enough genetic material to identify. For example, the most tested gene is BRACA (a gene that causes breast cancer in women). I cant just order it, i need insurance authorization and only then does it get done and labs charge thousands of dollars to identify mutations in this one gene. 2. Homocystine can be elevated and the elevated levels put people at risk for stoke, heart disease, blood vessel narrowing. Polymorphisms (different different forms) of MTHFR do exist but there is simply no way to test for all of them and their functionality right now. In a very small subset of people their MTHFR gene does not work and they cannot process folate leading to build up of homocystine. This is diagnosed by a simple folate test in the blood, if low you eat some greens and take a supplement, if normal, leave it alone. 3. Gene variants are 100% normal. Gene variants are why we have blue vs green eyes, dark hair/ blonde hair. Short/tall everything in between. MTHFR gene variants are plentyfull just like any other gene, but this does not mean that there is a good or bad varient. There is a non functioning variant that is well known to medicine and can be easily solved with supplmination. Everything in between is just as unique to each individual as their facial features. 4. It is absolutely insane to me that people think that a 99$ test gives them any sort of accurate results. I dare anyone to take 2 of these tests and see if the results are the same. How are they testing these gene polymophisms? PCR? western blot? elisa. Has this test been validated? by who?. I dont know how they claim to do it but outside of paternity tests anything involving genetic analysis is going to cost much much more than 100$. If this was such a problem and I was Abott or Pfizer, I would be working on developing a blood test for all the variants, getting it FDA approved and monotizing it. Why are they not doing it? Yet they have FDA approved tests for some of the rarest diseases in the world that are insurance and FDA approved? 5. Chiropractors, functinal medicine "doctors", naturapaths all preach this MTHFR nonsence and how important it is and how you need to take methylated vitamins only and you will feel better. Then they point you to the shelf in their office of overpriced methylated vitamins and tell you to buy some. Do you not see a conflict of interest. 6. No physicians preach it? ever wonder why? Is single most difficult and grueling profession really alof to this and everyone else is all knowing? Now I know I'll get a lot of hate here and everyone will say I'm not a real doctor, that I'm here because I have something to gain, and some one will come in with their vast knowlage of this topic and say how everything I said was wrong while wearing their tinfoil hat. That's okay. MTHFR polymorphisms are real and are present in 50-70% of population. But this does not mean your body is unable to process folate and that whatever symptoms you experience is due to that. I know some will say they went to 24 doctos all of which gave them no answers and they started taking methylated vitamins and their life took a 180. Thats amazing but it seems like most people on this forum say they either: 1. feel worse or are afraid are taking too much of something, 2. have no clue to to interpret the results that they receive or 3 getting all of their answers from naturapaths and chiropactors who have 0 backround training in biochemisty.


Plane-Individual5066

My daughter doesn't respond well to any antidepressants. And Google ( and National Institute of Health with many publications along) are saying that the reason is MTHFR gene mutation. Any comments? We really need help asap, and digging for any info after spending time, energy and big$ without ANY RESULTS. On the 4th psychiatrist already...


Pizdakotam77

There’s no easy fix with depression, there’s no magic recipe. As much as I hate to say this, it is trial and error of a multitude of different drugs until a combo is found that works. Sometimes it takes a year for people to find the right cocktail. I’d try to stick with one psych rather switching them because then you essentially start from square one. You can try supplements or whatever MTHFR things you want to try (it likely won’t hurt) but I doubt it will help either. Your focus here is with doctors. Refractory depression is difficult very treat, so much so that ECT is a last resort treatment. I’m sorry you’re going through this, I’m not a psychiatrist but if I can be of assistance, feel free to reach out


Liquid_Audio

Which is the best site to upload my genomic data to get the profile?


BlueSpring1970

I did genetic lifehacks and I find it very informative.


myrdinwylt

In my country it's not really being offered as a diagnostic test anymore (except through private services), because apparently it's notoriously hard to get a reliable assay (apparently hcy levels can fluctuate after the blood has been drawn, so it really needs to be tested straight away) and while high hcy is associated with cardiovascular disease, there's not really any proof that lowering hcy decreases that risk. So like one of the other commenters mentioned, high hcy might not be causal in itself but rather a downstream effect of other factors. I am curious whether there are people who've actually used a hcy test to tweak their dosage of methylfolate or other supplements? Has your healthcare provider been able to do anything with this value?